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DAZAP1 DAZ associated protein 1 [ Homo sapiens (human) ]

Gene ID: 26528, updated on 9-Dec-2018

Summary

Official Symbol
DAZAP1provided by HGNC
Official Full Name
DAZ associated protein 1provided by HGNC
Primary source
HGNC:HGNC:2683
See related
Ensembl:ENSG00000071626 MIM:607430
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 19.6), appendix (RPKM 11.8) and 25 other tissues See more
Orthologs

Genomic context

See DAZAP1 in Genome Data Viewer
Location:
19p13.3
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (1407569..1435687)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1407584..1435683)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase core subunit S7 Neighboring gene guanidinoacetate N-methyltransferase Neighboring gene ribosomal protein S15 Neighboring gene APC2, WNT signaling pathway regulator Neighboring gene chromosome 19 open reading frame 25

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study for reading and language abilities in two population cohorts.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, DAZ-associated protein 1 (DAZAP1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa. The interaction of Rev with DAZAP1 is increased by RRE PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • mRNA surveillance pathway, organism-specific biosystem (from KEGG)
    mRNA surveillance pathway, organism-specific biosystemThe mRNA surveillance pathway is a quality control mechanism that detects and degrades abnormal mRNAs. These pathways include nonsense-mediated mRNA decay (NMD), nonstop mRNA decay (NSD), and no-go ...
  • mRNA surveillance pathway, conserved biosystem (from KEGG)
    mRNA surveillance pathway, conserved biosystemThe mRNA surveillance pathway is a quality control mechanism that detects and degrades abnormal mRNAs. These pathways include nonsense-mediated mRNA decay (NMD), nonstop mRNA decay (NSD), and no-go ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC19907

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA stem-loop binding IEA
Inferred from Electronic Annotation
more info
 
mRNA 3'-UTR binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
poly(G) binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
poly(G) binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
poly(U) RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
poly(U) RNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
maternal placenta development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermatogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
ribonucleoprotein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ribonucleoprotein complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
DAZ-associated protein 1
Names
deleted in azoospermia-associated protein 1
testicular tissue protein Li 50

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029884.1 RefSeqGene

    Range
    4985..33103
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001352033.1NP_001338962.1  DAZ-associated protein 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, and lacks an alternate exon in the 3' coding region resulting in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform c, which lacks an internal aa, but is longer and has a distinct C-terminus, compared to isoform a. Isoforms c and d are the same length, encode distinct isoforms.
    Source sequence(s)
    AI802551, AK124583, BC012062, BU557183, CR991431
    Consensus CDS
    CCDS86685.1
    Related
    ENSP00000465433.2, ENST00000587079.5
    Conserved Domains (2) summary
    cd12327
    Location:110189
    RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    cd12574
    Location:1192
    RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
  2. NM_001352034.1NP_001338963.1  DAZ-associated protein 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 3' coding region, and lacks an alternate exon in the 3' coding region resulting in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform d, which lacks an internal aa, but is longer and has a distinct C-terminus, compared to isoform a. Isoforms c and d are the same length, encode distinct isoforms.
    Source sequence(s)
    AI802551, AK124583, BC012062, BM559229, BU557183
    Consensus CDS
    CCDS86684.1
    Related
    ENSP00000467680.2, ENST00000592522.5
    Conserved Domains (2) summary
    cd12327
    Location:111190
    RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    cd12574
    Location:1192
    RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
  3. NM_001352035.1NP_001338964.1  DAZ-associated protein 1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate exon in its 5' coding region, resulting in the use of an alternate start codon, and lacks an alternate exon in the 3' coding region resulting in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform e, which is shorter and has distinct N- and C-termini compared to isoform a.
    Source sequence(s)
    AI802551, AK124583, BC012062, BU557183, DA256130
  4. NM_018959.3NP_061832.2  DAZ-associated protein 1 isoform b

    See identical proteins and their annotated locations for NP_061832.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region resulting in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform b, which is longer and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AI802551, AK124583, BC012062, BU557183
    Consensus CDS
    CCDS12065.1
    UniProtKB/Swiss-Prot
    Q96EP5
    UniProtKB/TrEMBL
    A0A0S2Z569
    Related
    ENSP00000233078.3, ENST00000233078.8
    Conserved Domains (2) summary
    cd12327
    Location:111190
    RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    cd12574
    Location:1192
    RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
  5. NM_170711.2NP_733829.1  DAZ-associated protein 1 isoform a

    See identical proteins and their annotated locations for NP_733829.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (a).
    Source sequence(s)
    AI802551, AK056850, AK124583, BC012062, BU557183
    Consensus CDS
    CCDS12066.1
    UniProtKB/Swiss-Prot
    Q96EP5
    Related
    ENSP00000337132.5, ENST00000336761.10
    Conserved Domains (2) summary
    cd12327
    Location:111190
    RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    cd12574
    Location:1192
    RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    1407569..1435687
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259535.3XP_005259592.1  DAZ-associated protein 1 isoform X8

    See identical proteins and their annotated locations for XP_005259592.1

  2. XM_005259536.4XP_005259593.1  DAZ-associated protein 1 isoform X9

  3. XM_017026582.2XP_016882071.1  DAZ-associated protein 1 isoform X7

  4. XM_011527907.2XP_011526209.1  DAZ-associated protein 1 isoform X4

    Conserved Domains (3) summary
    COG0724
    Location:151340
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12327
    Location:253332
    RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    cd12574
    Location:154235
    RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
  5. XM_011527905.2XP_011526207.1  DAZ-associated protein 1 isoform X2

    Conserved Domains (3) summary
    COG0724
    Location:151341
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12327
    Location:254333
    RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    cd12574
    Location:154235
    RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
  6. XM_011527906.2XP_011526208.1  DAZ-associated protein 1 isoform X3

    Conserved Domains (3) summary
    COG0724
    Location:151340
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12327
    Location:253332
    RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    cd12574
    Location:154235
    RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
  7. XM_011527909.3XP_011526211.1  DAZ-associated protein 1 isoform X5

    See identical proteins and their annotated locations for XP_011526211.1

    Conserved Domains (3) summary
    COG0724
    Location:151341
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12327
    Location:254333
    RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    cd12574
    Location:154235
    RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
  8. XM_011527908.2XP_011526210.1  DAZ-associated protein 1 isoform X5

    See identical proteins and their annotated locations for XP_011526210.1

    Conserved Domains (3) summary
    COG0724
    Location:151341
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12327
    Location:254333
    RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    cd12574
    Location:154235
    RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
  9. XM_011527904.2XP_011526206.1  DAZ-associated protein 1 isoform X1

    Conserved Domains (3) summary
    COG0724
    Location:151341
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12327
    Location:254333
    RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    cd12574
    Location:154235
    RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
  10. XM_011527910.2XP_011526212.1  DAZ-associated protein 1 isoform X6

    See identical proteins and their annotated locations for XP_011526212.1

    Conserved Domains (2) summary
    cd12327
    Location:70149
    RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    cl17169
    Location:151
    RRM_SF; RNA recognition motif (RRM) superfamily
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